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Volumn 26, Issue 12, 1996, Pages 845-851

Imaging features of type 1 hereditary tyrosinemia: A review of 30 patients

Author keywords

[No Author keywords available]

Indexed keywords

FUMARYLACETOACETASE; SUCCINYLACETONE; TYROSINE;

EID: 0029825844     PISSN: 03010449     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF03178035     Document Type: Article
Times cited : (21)

References (18)
  • 1
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    • Phaneuf D, Labelle Y, Bérubé D, Arden K, Cavenee W, Gagné R, Tanquay RM (1991) Cloning and expression of the cDNA encoding human fumarylacetoacetate hydrolase, the enzyme deficient in hereditary tyrosinemia: assignment of the gene to chromosome 15. Am J Hum Genet 48: 525-535
    • (1991) Am J Hum Genet , vol.48 , pp. 525-535
    • Phaneuf, D.1    Labelle, Y.2    Bérubé, D.3    Arden, K.4    Cavenee, W.5    Gagné, R.6    Tanquay, R.M.7
  • 2
    • 0027248381 scopus 로고
    • Characterization of the human fumarylacetoacetate hydrolase gene and identification of a missense mutation abolishing enzymatic activity
    • Labelle Y, Phaneuf D, Leclerc B, Tanquay RM (1993) Characterization of the human fumarylacetoacetate hydrolase gene and identification of a missense mutation abolishing enzymatic activity. Hum Mol Genet 2: 941-946
    • (1993) Hum Mol Genet , vol.2 , pp. 941-946
    • Labelle, Y.1    Phaneuf, D.2    Leclerc, B.3    Tanquay, R.M.4
  • 3
    • 0028098187 scopus 로고
    • Identification of a stop mutation in five Finnish patients suffering from hereditary tyrosinemia tvpe 1
    • St-Louis M, Leclerc B, Laine J, Salo MK, Holmberg C, Tanquay RM (1994) Identification of a stop mutation in five Finnish patients suffering from hereditary tyrosinemia tvpe 1. Hum Mol Genet 3: 69-72
    • (1994) Hum Mol Genet , vol.3 , pp. 69-72
    • St-Louis, M.1    Leclerc, B.2    Laine, J.3    Salo, M.K.4    Holmberg, C.5    Tanquay, R.M.6
  • 4
    • 0025180243 scopus 로고
    • Genetic epidemiology of hereditary tyrosinemia in Québec and in Saguenay-Lac-St-Jean
    • De Braekeleer M, Larochelle J (1990) Genetic epidemiology of hereditary tyrosinemia in Québec and in Saguenay-Lac-St-Jean. Am J Hum Genet 47: 302-307
    • (1990) Am J Hum Genet , vol.47 , pp. 302-307
    • De Braekeleer, M.1    Larochelle, J.2
  • 5
    • 0025024583 scopus 로고
    • Liver transplantation for hereditary tyrosinemia: The Québec experience
    • Paradis K, Weber A, Seidman EG et al (1990) Liver transplantation for hereditary tyrosinemia: the Québec experience. Am J Hum Genet 47: 338-342
    • (1990) Am J Hum Genet , vol.47 , pp. 338-342
    • Paradis, K.1    Weber, A.2    Seidman, E.G.3
  • 6
    • 0017106109 scopus 로고
    • The occurrence of hepatoma in the chronic form of hereditary tyrosinemia
    • Weinberg AG, Mize CE, Worthen HG (1976) The occurrence of hepatoma in the chronic form of hereditary tyrosinemia. J Pediatr 88: 434-438
    • (1976) J Pediatr , vol.88 , pp. 434-438
    • Weinberg, A.G.1    Mize, C.E.2    Worthen, H.G.3
  • 7
    • 10544242558 scopus 로고
    • Changing concepts: Liver replacement for hereditary tyrosinemia and hepatoma
    • Starzl TE, Zitelli BJ, Shaw BW Jr, et al (1985) Changing concepts: liver replacement for hereditary tyrosinemia and hepatoma. J Pediatr 110: 339-403
    • (1985) J Pediatr , vol.110 , pp. 339-403
    • Starzl, T.E.1    Zitelli, B.J.2    Shaw Jr., B.W.3
  • 9
    • 0023181266 scopus 로고
    • Hepatic regeneration nodules in hereditary tyrosinemia
    • Day DL, Létourneau JG, Bradford TA, et al (1987) Hepatic regeneration nodules in hereditary tyrosinemia. AJR 149: 391-393
    • (1987) AJR , vol.149 , pp. 391-393
    • Day, D.L.1    Létourneau, J.G.2    Bradford, T.A.3
  • 12
    • 0025099643 scopus 로고
    • Neurologic crises in hereditary tyrosinemia
    • Mitchell G, Larochelle J, Lambert M, et al (1990) Neurologic crises in hereditary tyrosinemia. N Engl J Med 332: 432-437
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    • Mitchell, G.1    Larochelle, J.2    Lambert, M.3
  • 13
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    • Hereditary tyrosinemia type 1: An overview
    • Kvittigen EA (1986) Hereditary tyrosinemia type 1: an overview. Scand J Clin Lab Invest 46: 27-34
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  • 14
    • 2442592746 scopus 로고
    • Absence of increase succinylacetone in the urine of a child with hereditary tyrosinemia type 1
    • Haagen AAM, Duran M (1987) Absence of increase succinylacetone in the urine of a child with hereditary tyrosinemia type 1. J Inherit Metab Dis 10 (Suppl 2): 323-325
    • (1987) J Inherit Metab Dis , vol.10 , Issue.2 SUPPL. , pp. 323-325
    • Haagen, A.A.M.1    Duran, M.2
  • 15
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    • Resolution of the clinical features of tyrosinemia following orthotopic liver transplantation for hepatoma
    • Vanthiel DH, Gartner LM, Thorp FK, et al (1986) Resolution of the clinical features of tyrosinemia following orthotopic liver transplantation for hepatoma. J Hepatol 3: 42-48
    • (1986) J Hepatol , vol.3 , pp. 42-48
    • Vanthiel, D.H.1    Gartner, L.M.2    Thorp, F.K.3
  • 16
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    • Flatmark A, Bergan A, Sodal I, et al (1985) Does liver transplantation correct the metabolic defect in hereditary tyrosinemia? Transplant Proc 18: 67-68
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.